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The occurrence of three different hemizygous missense mutations in three unrelated families affected by Ohdo syndrome MKB type shows that mutations in MED12 are the underlying cause of this X-linked form of Ohdo syndrome.

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Learn more at Author Central. Are you an author? Clinically, these blepharophimosis-ID syndromes have been classified in five distinct subgroups, including the Maat-Kievit-Brunner MKB type, which, in contrast to the others, is characterized by X-linked inheritance and facial coarsening at older age.

Help us improve our Author Pages by updating your bibliography and submitting a new or current image and biography. Upon subsequent analysis of an additional cohort of nine simplex male individuals with Ohdo syndrome, one additional de novo missense change c.

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We performed exome sequencing in two families, each with two affected males with Ohdo syndrome MKB type. SerPro] segregating with the phenotype were identified. East Dane Designer Men’s Fashion. Get to Know Us. How does Europe PMC derive its citations network? Amazon Renewed Refurbished products with a warranty. Learn more about Amazon Prime. In the two families, MED12 missense mutations c. Gene Ontology GO Terms. High to Low Avg.

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Mutations in MED12 cause X-linked Ohdo syndrome. – Abstract – Europe PMC

Abstract Ohdo syndrome comprises a heterogeneous group of disorders characterized by intellectual disability ID and typical facial features, including blepharophimosis. Shopbop Designer Fashion Brands. Amazon Music Stream millions of songs. HisAsn] in MED12 was detected. Popularity Popularity Featured Price: AmazonGlobal Ship Orders Noischen.

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